ClinGen Allele Registry
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Canonical Allele Identifier:
PA2825654268
Gene: PCCA
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
462561
ClinVar RCV:
RCV000525403
RCV001086663
RCV003915506
ClinVar Variation:
459937
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001121164.1:p.Val647Leu
CA7033870
NM_001127692.3:c.1939G>C